Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	8495
Gene name	PPFIB scaffold protein 2
Gene symbol	PPFIBP2
Synonyms (NCBI Gene)	Cclp1
Chromosome	11
Chromosome location	11p15.4
Summary	This gene encodes a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. The encoded protein is a beta liprin and plays a role in axon guidance and neuronal synapse development by recruiting LAR protein-tyrosine phosphatases

Show/Hide all (40)

miRTarBase ID	miRNA	Experiments
MIRT1252593	hsa-miR-124	CLIP-seq
MIRT1252594	hsa-miR-3714	CLIP-seq
MIRT1252595	hsa-miR-3910	CLIP-seq
MIRT1252596	hsa-miR-506	CLIP-seq
MIRT2074413	hsa-miR-1208	CLIP-seq
MIRT2074414	hsa-miR-668	CLIP-seq
MIRT2301318	hsa-miR-1206	CLIP-seq
MIRT2074413	hsa-miR-1208	CLIP-seq
MIRT1252593	hsa-miR-124	CLIP-seq
MIRT2301319	hsa-miR-1294	CLIP-seq
MIRT2301320	hsa-miR-3607-5p	CLIP-seq
MIRT2301321	hsa-miR-3692	CLIP-seq
MIRT1252594	hsa-miR-3714	CLIP-seq
MIRT2301322	hsa-miR-3907	CLIP-seq
MIRT1252595	hsa-miR-3910	CLIP-seq
MIRT2301323	hsa-miR-4318	CLIP-seq
MIRT2301324	hsa-miR-4436b-5p	CLIP-seq
MIRT2301325	hsa-miR-4699-5p	CLIP-seq
MIRT2301326	hsa-miR-4706	CLIP-seq
MIRT2301327	hsa-miR-4710	CLIP-seq
MIRT2301328	hsa-miR-4749-5p	CLIP-seq
MIRT2301329	hsa-miR-4787-5p	CLIP-seq
MIRT1252596	hsa-miR-506	CLIP-seq
MIRT2301330	hsa-miR-548q	CLIP-seq
MIRT2074414	hsa-miR-668	CLIP-seq
MIRT2301331	hsa-miR-744	CLIP-seq
MIRT2598107	hsa-miR-1287	CLIP-seq
MIRT2598108	hsa-miR-1915	CLIP-seq
MIRT2598109	hsa-miR-302f	CLIP-seq
MIRT2598110	hsa-miR-3135b	CLIP-seq
MIRT2598111	hsa-miR-3136-3p	CLIP-seq
MIRT2598112	hsa-miR-4731-3p	CLIP-seq
MIRT2598113	hsa-miR-4801	CLIP-seq
MIRT2598107	hsa-miR-1287	CLIP-seq
MIRT2598108	hsa-miR-1915	CLIP-seq
MIRT2598109	hsa-miR-302f	CLIP-seq
MIRT2598110	hsa-miR-3135b	CLIP-seq
MIRT2598111	hsa-miR-3136-3p	CLIP-seq
MIRT2598112	hsa-miR-4731-3p	CLIP-seq
MIRT2598113	hsa-miR-4801	CLIP-seq

Show/Hide all (8)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	19447967, 26871637, 32296183, 33961781
GO:0005615	Component	Extracellular space	HDA	22664934
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0007528	Process	Neuromuscular junction development	IBA
GO:0042802	Function	Identical protein binding	IDA	21462929
GO:0048786	Component	Presynaptic active zone	IBA
GO:0098793	Component	Presynapse	IEA

MIM	HGNC	e!Ensembl
603142	9250	ENSG00000166387

Q8ND30

Protein name

Liprin-beta-2 (Protein tyrosine phosphatase receptor type f polypeptide-interacting protein-binding protein 2) (PTPRF-interacting protein-binding protein 2)

Protein function

May regulate the disassembly of focal adhesions. Did not bind receptor-like tyrosine phosphatases type 2A.

PDB

3QH9

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00536	SAM_1	556 → 620	SAM domain (Sterile alpha motif)	Domain
PF00536	SAM_1	631 → 691	SAM domain (Sterile alpha motif)	Domain
PF07647	SAM_2	715 → 785	SAM domain (Sterile alpha motif)	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:9624153}.

Sequence

MASDASHALEAALEQMDGIIAGTKTGADLSDGTCEPGLASPASYMNPFPVLHLIEDLRLA
LEMLELPQERAALLSQIPGPTAAYIKEWFEESLSQVNHHSAASNETYQERLARLEGDKES
LILQVSVLTDQVEAQGEKIRDLEVCLEGHQVKLNAAEEMLQQELLSRTSLETQKLDLMTE
VSELKLKLVGMEKEQREQEEKQRKAEELLQELRHLKIKVEELENERNQYEWKLKATKAEV
AQLQEQVALKDAEIERLHSQLSRTAALHSESHTERDQEIQRLKMGMETLLLANEDKDRRI
EELTGLLNQYRKVKEIVMVTQGPSERTLSINEEEPEGGFSKWNATNKDPEELFKQEMPPR
CSSPTVGPPPLPQKSLETRAQKKLSCSLEDLRSESVDKCMDGNQPFPVLEPKDSPFLAEH
KYPTLPGKLSGATPNGEAAKSPPTICQPDATGSSLLRLRDTESGWDDTAVVNDLSSTSSG
TESGPQSPLTPDGKRNPKGIKKFWGKIRRTQSGNFYTDTLGMAEFRRGGLRATAGPRLSR
TRDSKGQKSDANAPFAQWSTERVCAWLEDFGLAQYVIFARQWVSSGHTLLTATPQDMEKE
LGIKHPLHRKKLVLAVKAINTKQEEKSALLDHIWVTRWLDDIGLPQYKDQFHESRVDRRM
LQYLTVNDLLFLKVTSQLHHLSIKCAIHVLHVNKFNPHCLHRRPADESNLSPSEVVQWSN
HRVMEWLRSVDLAEYAPNLRGSGVHGGLIILEPRFTGDTLAMLLNIPPQKTLLRRHLTTK
FNALIGPEAEQEKREKMASPAYTPLTTTAKVRPRKLGFSHFGNIRKKKFDESTDYICPME
PSDGVSDSHRVYSGYRGLSPLDAPELDGLDQVGQIS

Sequence length

876

Interactions

View interactions

	Reactome
			Receptor-type tyrosine-protein phosphatases

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (11)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
BRONCHIAL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTANEOUS MELANOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTERSTITIAL LUNG DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PPFIBP2-related disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER, FAMILIAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (15)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Biliary Tract Cancer	Biliary Tract Cancer	BEFREE	22614781, 23298711		★★★★★ ★☆☆☆☆ Found in Text Mining only
Biliary Tract Neoplasms	Biliary tract neoplasms	Pubtator	37330435	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	15855163, 26774260	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	16966336, 17241887, 18199552, 25691459, 29152142		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	28560603, 30410355, 31404302		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	28241849		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	26443449, 30043417		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	26443449		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22328529, 23298711		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate cancer, familial	Prostate cancer	CTD_human_DG	29892016		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER, HEREDITARY, 1	Prostate Cancer, Hereditary	CTD_human_DG	29892016		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	26443449, 30043417		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate carcinoma	Prostate cancer	GWASCAT_DG	26443449, 29892016		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	26443449		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	26443449		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

PPFIBP2 (PPFIB scaffold protein 2)